1. Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: results from a case report
- Author
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Isidori, Federica, Malvi, Deborah, Fittipaldi, Silvia, Forcato, Claudio, Bozzarelli, Isotta, Sala, Claudia, Raulli, Giovanni, D'Errico, Antonia, Fiorentino, Michelangelo, Seri, Marco, Krishnadath, Kausilia K., Bonora, Elena, Mattioli, Sandro, Lugaresi, Maria Luisa, D'Errico, Antonietta, Castellani, Gastone, Fiocca, Roberto, Mastracci, Luca, Räsänen, Jari, Söderström, Henna, CCA - Imaging and biomarkers, Gastroenterology and Hepatology, AGEM - Re-generation and cancer of the digestive system, Isidori, Federica, Malvi, Deborah, Fittipaldi, Silvia, Forcato, Claudio, Bozzarelli, Isotta, Sala, Claudia, Raulli, Giovanni, D'Errico, Antonia, Fiorentino, Michelangelo, Seri, Marco, Krishnadath, Kausilia K., Bonora, Elena, Mattioli, Sandro, Lugaresi, Maria Luisa, Castellani, Gastone, Fiocca, Roberto, Mastracci, Luca, Räsänen, Jari, and Söderström, Henna
- Subjects
0301 basic medicine ,Cancer Research ,Esophageal Neoplasms ,Receptor, ErbB-2 ,Biopsy ,medicine.medical_treatment ,Case Report ,Somatic evolution in cancer ,Targeted therapy ,ErbB-2 ,0302 clinical medicine ,Surgical oncology ,Neoplasm Metastasis ,Stage (cooking) ,Esophageal Neoplasm ,Tumor ,medicine.diagnostic_test ,Single Nucleotide ,Genomics ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Immunohistochemistry ,Neoplasm Metastasi ,Oncology ,030220 oncology & carcinogenesis ,Adenocarcinoma ,Female ,Esophageal adenocarcinoma ,Human ,Receptor ,Stromal cell ,Polymorphism, Single Nucleotide ,lcsh:RC254-282 ,Clonal Evolution ,03 medical and health sciences ,Genetic ,Next generation sequencing ,Biomarkers, Tumor ,Genetics ,medicine ,Humans ,Polymorphism ,Neoplasm Staging ,Digital cell sorting, Esophageal adenocarcinoma, Next generation sequencing, Adenocarcinoma, Biomarkers, Tumor, Biopsy, Clonal Evolution, Esophageal Neoplasms, Female, Humans, Immunohistochemistry, Mutation, Neoplasm Metastasis, Neoplasm Staging, Polymorphism, Single Nucleotide, Receptor, ErbB-2, Genomics, Whole Genome Sequencing ,Whole Genome Sequencing ,business.industry ,Cancer ,medicine.disease ,Digital cell sorting ,030104 developmental biology ,Mutation ,Genomic ,Cancer research ,business ,Biomarkers - Abstract
Background We report on a female patient who underwent primary radical resection for a stage 2B Her-2-positive Barrett’s-type esophageal adenocarcinoma (EAC). Despite Her-2 targeted therapy, her disease recurred and required repeated metastectomies. Case presentation Digital cell sorting and targeted sequencing of cancer sub-clones from EAC and metastases revealed a completely mutated TP53, whereas the sorted stromal cells were wild-type. Her-2 amplification was significantly lower in the metastases when the patient became therapy-resistant. Conclusions The mechanism of therapy resistance illustrated by this case could only be detected through accurate analysis of tumor sub-populations. Investigating tumor sub-populations of recurrent disease is important for adjusting therapy in recurrent EAC. Electronic supplementary material The online version of this article (10.1186/s12885-018-4789-4) contains supplementary material, which is available to authorized users.
- Published
- 2018